R736C (p.Arg736Cys) variant of DNMT3A (Q9Y6K1)
R736C (p.Arg736Cys) in DNMT3A (Q9Y6K1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Tatton-Brown-Rahman overgrowth syndrome; Intellectual disability. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R736C (p.Arg736Cys) variant details
- p.Arg736Cys
- rs761934754
- ClinGen CA1555701
- cosmic curated COSV53038
- ClinVar RCV001260610
- Conflicting interpretations
- not provided; Tatton-Brown-Rahman overgrowth syndrome; Intellectual disability
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.92
- CADD 32.00
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided; Tatton-Brown-Rahman overgrowth syndrome; Intellect)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 0.00012)
- Structural context available
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)
- Cited in: Comprehensive evaluation of the child with intellectual disability or global developmental delays. (PMID 25157020)